| Metadata | |
|---|---|
| ID | DOID:0070264 |
| Name | congenital disorder of glycosylation type IIl |
| Definition | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11. https://www.ncbi.nlm.nih.gov/pubmed/20605848 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CDG IIl [EXACT] CDG syndrome type IIL [EXACT] CDG2L [EXACT] CDGIIl [EXACT] COG6-CGD [EXACT] Congenital disorder of glycosylation type 2l [EXACT] |
| Parent Relationships |